Submissions for variant NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)

gnomAD frequency: 0.00617  dbSNP: rs1046166

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081177	SCV000113085	benign	not specified	2012-11-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081177	SCV000193509	benign	not specified	2014-04-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000081177	SCV000196854	benign	not specified	2016-07-11	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV001080965	SCV000438144	likely benign	Muscular dystrophy-dystroglycanopathy type B6	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000398032	SCV000438145	likely benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics	RCV000081177	SCV000613995	likely benign	not specified	2020-10-28	criteria provided, single submitter	clinical testing
Invitae	RCV001080965	SCV000638988	benign	Muscular dystrophy-dystroglycanopathy type B6	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710159	SCV001153677	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	LARGE1: BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710159	SCV001931947	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710159	SCV001972377	likely benign	not provided		no assertion criteria provided	clinical testing